Literature DB >> 16826534

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

Sara Benito-Sanz, Darya Gorbenko del Blanco, Celine Huber, N Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Angel Campos-Barros, Karen E Heath.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16826534      PMCID： PMC1559488          DOI： 10.1086/506390

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  14 in total

1.  The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.

Authors:  J L Ross; D Roeltgen; H Kushner; F Wei; A R Zinn
Journal:  Am J Hum Genet       Date:  2000-08-08       Impact factor: 11.025

2.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

3.  Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.

Authors:  Celia A May; Angela C Shone; Luba Kalaydjieva; Antti Sajantila; Alec J Jeffreys
Journal:  Nat Genet       Date:  2002-06-24       Impact factor: 38.330

Review 4.  Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Authors:  Christine J Shaw; James R Lupski
Journal:  Hum Mol Genet       Date:  2004-02-05       Impact factor: 6.150

5.  Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

Authors:  T Kosho; K Muroya; T Nagai; M Fujimoto; S Yokoya; H Sakamoto; T Hirano; H Terasaki; H Ohashi; G Nishimura; S Sato; N Matsuo; T Ogata
Journal:  J Clin Endocrinol Metab       Date:  1999-12       Impact factor: 5.958

6.  A second recombination hotspot associated with SHOX deletions.

Authors:  Andrew R Zinn; Purita Ramos; Judith L Ross
Journal:  Am J Hum Genet       Date:  2006-03       Impact factor: 11.025

7.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Authors:  Sara Benito-Sanz; N Simon Thomas; Céline Huber; Celine Huber; Darya Gorbenko del Blanco; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; John A Crolla; Vivienne Maloney; Gudrun Rappold; Jesús Argente; Jesus Argente; Angel Campos-Barros; Valérie Cormier-Daire; Valerie Cormier-Daire; Karen E Heath
Journal:  Am J Hum Genet       Date:  2005-08-15       Impact factor: 11.025

8.  Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.

Authors:  S Lien; J Szyda; B Schechinger; G Rappold; N Arnheim
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

9.  Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.

Authors:  T Ogata; K Muroya; N Matsuo; O Shinohara; T Yorifuji; Y Nishi; Y Hasegawa; R Horikawa; K Tachibana
Journal:  J Clin Endocrinol Metab       Date:  2001-11       Impact factor: 5.958

10.  SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

Authors:  N Simon Thomas; Viv Maloney; Paul Bass; Varsha Mulik; Diana Wellesley; Bruce Castle
Journal:  Am J Med Genet A       Date:  2004-07-15       Impact factor: 2.802
View more
  10 in total

Review 1.  Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Authors:  Sara Benito-Sanz; Alberta Belinchon-Martínez; Miriam Aza-Carmona; Carolina de la Torre; Celine Huber; Isabel González-Casado; Judith L Ross; N Simon Thomas; Andrew R Zinn; Valerie Cormier-Daire; Karen E Heath
Journal:  J Hum Genet       Date:  2016-09-08       Impact factor: 3.172

2.  Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Authors:  Verónica Barca-Tierno; Miriam Aza-Carmona; Eva Barroso; Damia Heine-Suner; Dimitar Azmanov; Jordi Rosell; Begoña Ezquieta; Lucia Sentchordi Montané; Teresa Vendrell; Jaime Cruz; Fernando Santos; José Ignacio Rodríguez; Jesús Pozo; Jesús Argente; Luba Kalaydjieva; Ricardo Gracía; Angel Campos-Barros; Sara Benito-Sanz; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

3.  Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Authors:  Angelos Alexandrou; Ioannis Papaevripidou; Kyriakos Tsangaras; Ioanna Alexandrou; Marios Tryfonidis; Violetta Christophidou-Anastasiadou; Eleni Zamba-Papanicolaou; George Koumbaris; Vassos Neocleous; Leonidas A Phylactou; Nicos Skordis; George A Tanteles; Carolina Sismani
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

4.  Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Authors:  Valentina Gatta; Ivana Antonucci; Elisena Morizio; Chiara Palka; Rita Fischetto; Vahe Mokini; Stefano Tumini; Giuseppe Calabrese; Liborio Stuppia
Journal:  J Hum Genet       Date:  2006-11-08       Impact factor: 3.172

5.  Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.

Authors:  Maki Fukami; Sumito Dateki; Fumiko Kato; Yukihiro Hasegawa; Hiroshi Mochizuki; Reiko Horikawa; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2008-03-06       Impact factor: 3.172

6.  Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Authors:  Purificación Ros-Pérez; Francisco J Regidor; Esmeralda Colino; Cristina Martínez-Payo; Eva Barroso; Karen E Heath
Journal:  BMC Pediatr       Date:  2012-06-29       Impact factor: 2.125

7.  Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Authors:  Kenan Delil; Halil Gürhan Karabulut; Bülent Hacıhamdioğlu; Zeynep Şıklar; Merih Berberoğlu; Gönül Öçal; Ajlan Tükün; Hatice Ilgın Ruhi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12-18

8.  Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.

Authors:  Yen-Lung Lin; Omer Gokcumen
Journal:  Genome Biol Evol       Date:  2019-04-01       Impact factor: 3.416

9.  Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay.

Authors:  David J Bunyan; Jonathan L A Callaway; Nadja Laddach
Journal:  J Reprod Infertil       Date:  2012-07

10.  NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Authors:  Miriam Aza-Carmona; Veronica Barca-Tierno; Alfonso Hisado-Oliva; Alberta Belinchón; Darya Gorbenko-del Blanco; Jose Ignacio Rodriguez; Sara Benito-Sanz; Angel Campos-Barros; Karen E Heath
Journal:  PLoS One       Date:  2014-01-08       Impact factor: 3.240
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.